Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 89 | |
| | | Microsatellite (nonsense) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 89 | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 89 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy 89 | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy 89 | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more | |
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